Hypoplastic Left Heart Syndrome (HLHS) was diagnosed at our ultrasound at 18 weeks.
This is a blog about a Congenital Heart Defect (CHD) called HLHS and our journey with Isabelle; our visits to University of Michigan and C.S. Mott Children's hospital; and our life.

Monday, September 10, 2012

Results from Chromosome 8 research!

July 11, 2012

It felt like an eternity passed before we finally heard back about what it meant when we were told about the "extra material" on chromosome 8. The anticipation and the anxiety we felt was again on high alert for this doctor appointment ~ wondering what we were going to be told now!

Soon after our appointment began with the genetic counselor all the anxiety was replaced with MORE unknowns and more frustrating news. Our baby girl has not one not two not three but a total of FOUR copies of the top 3 bands on one of the short arms of Chromosome 8. Now normally anyone would have two copies, one from mom and one from dad. But hers duplicated and now she has 4 total. (I have added the photo at the bottom of the chromosome print out they gave us so we could "see" what they were talking about.)

What we heard next is what made us speechless.

"THIS HAS NOT BEEN FOUND IN LITERATURE" the counselor stated, therefore they can not tell us specifically what this will mean for our baby. She handed us a brochure on different scenarios about deletion and duplications of this chromosome and what it can lead to and mean. Well, she told us to take it with a grain of salt because it really doesn't apply to our situation. What can one say, think or feel now ~ NUMB is the word that comes to mind! Can I call it a set back... maybe... but it is more like yet another "unknown" piece being added to an already complicated situation. So it was pointless to try to go home and research this specific chromosome 8 abnormality... there really isn't ANY information out there about it!

Adam and I agreed to the request to have our blood taken to see if either of us were carriers. We both felt like we weren't based on the fact that our first child is healthy, but I understand that some people can carry duplications of a chromosome and never have "side effects" from it. We were hoping that neither of us carried it because it could defiantly change our minds about having any more children.This whole situation to say has been difficult is a huge understatement at this point. We felt our faith, hope and strength fading before our eyes.Ultrasound photos from July 11, 2012 (almost 26 weeks along)

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Trying to hideBelow is the Chromosome 8 duplication. One copy on the left and 3 total on the right.